S-Ado

[pnrobinson]

The enzyme defect is manifested by the presence of enormously elevated concentrations of the two succinylnucleosides—succinyla- minoimidazole carbox­amide riboside (SAICAr) and succinyladeno- sine (S-Ado)—in urine and CSF and to a lesser ex­tent also in plasma. SAICAr and S-Ado are formed by dephosphorylation of the two sub- strates of the enzyme (Fig. 1) and are undetectable or presented in low micromolar concentrations in body fluids of controls [4,5]. The only biochemical marker that seems to correlate with the severity of the disease is the ratio of the accumulating S-Ado and SAICAr in body fluids, particularly in the cerebrospinal fluid. The lower the ratio S- Ado/SAICAr, the more severe the clinical symptoms of the patients.

103050 PMID:18524658